Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.M1I
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THAP1

NM_018105.3:p.M1I

Associated Papers

Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review.

Lange LM et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2021

The genetics of primary familial brain calcifications.

Westenberger A et al.

Current Neurology and Neuroscience Reports, 2014

Recent advances in the genetics of dystonia.

Xiao J et al.

Current Neurology and Neuroscience Reports, 2014

Role of Gα(olf) in familial and sporadic adult-onset primary dystonia.

Vemula SR et al.

Human Molecular Genetics, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."